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1 . Academic Journal
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
저자
by
Green, Timothy E.
;
Fujita, Atsushi
;
Ghaderi, Navid
;
Heinzen, Erin L.
;
Matsumoto, Naomichi
, et al.
소스
In
Neurobiology of Disease
September 2023 185
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7 . Academic Journal
De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years
저자
by
McCormack, Mark
;
McGinty, Ronan N.
;
Zhu, Xiaolin
;
Slattery, Lisa
;
Heinzen, Erin L.
, et al.
소스
In
European Journal of Medical Genetics
January 2020 63(1)
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7 . Academic Journal
New insights into tardive dyskinesia genetics: Implementation of whole-exome sequencing approach
저자
by
Alkelai, Anna
;
Greenbaum, Lior
;
Heinzen, Erin L.
;
Baugh, Evan H.
;
Teitelbaum, Alexander
, et al.
소스
In
Progress in Neuropsychopharmacology & Biological Psychiatry
30 August 2019 94
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7 . Academic Journal
Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.
저자
by
Carton, Robert J.
;
Doyle, Michael G.
;
Kearney, Hugh
;
Steward, Charles A.
;
Lench, Nicholas J.
, et al.
소스
Epilepsia (Series 4)
. Mar2024, p1. 11p. 4 Illustrations, 1 Chart.
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7 . Periodical
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2Aas a novel causative gene
저자
by
Panagiotakaki, Eleni
;
Tiziano, Francesco D.
;
Mikati, Mohamad A.
;
Vijfhuizen, Lisanne S.
;
Nicole, Sophie
, et al.
소스
European Journal of Human Genetics: EJHG; February 2024, Vol. 32 Issue: 2 p224-231, 8p
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7 . Academic Journal
Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions.
저자
by
Brunklaus, Andreas
;
George, Alfred L.
;
Lal, Dennis
;
Heinzen, Erin L.
;
Goldman, Alica M.
.
소스
Epilepsia (Series 4)
. Nov2023, Vol. 64 Issue 11, p2909-2913. 5p.
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7 . Academic Journal
Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma
저자
by
Green, Timothy E.
;
Bennett, Mark F.
;
Immisch, Ilka
;
Freeman, Jeremy L.
;
Klein, Karl Martin
, et al.
소스
In
Genetics in Medicine Open
2023 1(1)
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7 . Academic Journal
Gaps and opportunities in refractory status epilepticus research in children: A multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG)
저자
by
Sánchez Fernández, Iván
;
Abend, Nicholas S.
;
Agadi, Satish
;
An, Sookee
;
Arya, Ravindra
, et al.
소스
In
Seizure: European Journal of Epilepsy
February 2014 23(2):87-97
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7 . Academic Journal
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
저자
by
Panagiotakaki, Eleni
;
Tiziano, Francesco D.
;
Mikati, Mohamad A.
;
Vijfhuizen, Lisanne S.
;
Nicole, Sophie
, et al.
소스
European Journal of Human Genetics
. 32(2):224-231
Web of Science
Scopus
JCR 저널정보
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7 . Periodical
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
저자
by
Miller, Katherine E.
;
Rivaldi, Adithe C.
;
Shinagawa, Noriyuki
;
Sran, Sahib
;
Navarro, Jason B.
, et al.
소스
Nature Genetics; November 2023, Vol. 55 Issue: 11 p1920-1928, 9p
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